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Multiple genetic analyses (panel sequencing, multiplex-ligation-dependent probe amplification, and whole genome sequencing) failed to uncover a causative variant. Optical genomic mapping detected a reciprocal translocation between chromosomes 4 and 20, interrupting JAG1. Long-range polymerase chain reaction and targeted sequencing identified the exact breakpoints. Sanger sequencing and reanalysis of genome sequencing raw data further confirmed the result. This translocation is expected to generate aberrant JAG1 transcripts that lead to complete loss of JAG1 expression. This is the first t(4;20)(q22.1;p12.2) balanced translocation detected by optical genomic mapping and characterized at base-pair resolution in ALGS. Our approach permitted precise diagnosis and genetic counseling.<\/jats:p>","DOI":"10.1155\/2023\/5396281","type":"journal-article","created":{"date-parts":[[2023,6,9]],"date-time":"2023-06-09T03:35:07Z","timestamp":1686281707000},"page":"1-7","source":"Crossref","is-referenced-by-count":5,"title":["Balanced Translocation Disrupting JAG1 Identified by Optical Genomic Mapping in Suspected Alagille Syndrome"],"prefix":"10.1155","volume":"2023","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9201-5880","authenticated-orcid":true,"given":"Yi-Qiong","family":"Zhang","sequence":"first","affiliation":[{"name":"The Center for Pediatric Liver Diseases, Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center, Shanghai 201102, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6500-2005","authenticated-orcid":true,"given":"Peng-Fei","family":"Gao","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4749-6683","authenticated-orcid":true,"given":"Jing-Min","family":"Yang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, China"},{"name":"Shanghai WeHealth Biomedical Technology Co., Ltd., Shanghai, China"},{"name":"Key Laboratory of Birth Defects and Reproductive Health of National Health and Family Planning Commission (Chongqing Key Laboratory of Birth Defects and Reproductive Health, Chongqing Population and Family Planning, Science and Technology Research Institute), Chongqing 400020, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7290-8304","authenticated-orcid":true,"given":"Jing","family":"Zhang","sequence":"additional","affiliation":[{"name":"The Center for Pediatric Liver Diseases, Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center, Shanghai 201102, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4941-5736","authenticated-orcid":true,"given":"Yu-Lan","family":"Lu","sequence":"additional","affiliation":[{"name":"Center for Molecular Medicine, Shanghai Key Lab of Birth Defects, Pediatrics Research Institute, Children\u2019s Hospital of Fudan University, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0823-586X","authenticated-orcid":true,"given":"Jian-She","family":"Wang","sequence":"additional","affiliation":[{"name":"The Center for Pediatric Liver Diseases, Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center, Shanghai 201102, China"},{"name":"Shanghai Key Laboratory of Birth Defect, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","reference":[{"key":"1","article-title":"Alagille syndrome","volume-title":"StatPearls","author":"J. 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